Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration

Neuropathol Appl Neurobiol. 2014 Oct;40(6):778-82. doi: 10.1111/nan.12144.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Brain / metabolism
  • Brain / pathology
  • Female
  • Frontotemporal Lobar Degeneration / complications*
  • Glycogen Debranching Enzyme System / genetics*
  • Glycogen Storage Disease / complications*
  • Glycogen Storage Disease / genetics*
  • Glycogen Storage Disease / pathology*
  • Haploinsufficiency
  • Humans
  • Male
  • Nervous System Diseases / complications*
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / pathology*

Substances

  • Glycogen Debranching Enzyme System
  • GBE1 protein, human

Supplementary concepts

  • Polyglucosan Body Disease, Adult Form